Linked Data
dbSNP Id:
rs759267806
ExAC:
10:96058244 C / T
gnomAD v2:
10-96058244-C-T
gnomAD v4:
10-94298487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298487C>T , CM000672.2:g.94298487C>T | GRCh38 |
| NC_000010.10:g.96058244C>T , CM000672.1:g.96058244C>T | GRCh37 |
| NC_000010.9:g.96048234C>T | NCBI36 |
| NG_015799.1:g.309499C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4352C>T | ENSP00000360426.1:p.Ser1451Leu | |
| ENST00000685253.1:c.*1819C>T | ENSP00000509405.1:n.*1819C>T | |
| ENST00000685889.1:n.2011C>T | ||
| ENST00000686807.1:n.695C>T | ||
| ENST00000686954.1:c.*560C>T | ENSP00000508416.1:n.*560C>T | |
| ENST00000688810.1:c.4304C>T | ENSP00000509140.1:p.Ser1435Leu | |
| ENST00000689233.1:n.9484C>T | ||
| ENST00000690340.1:n.2949C>T | ||
| ENST00000692286.1:c.5144C>T | ENSP00000509490.1:p.Ser1715Leu | |
| ENST00000692396.1:c.5228C>T | ENSP00000508605.1:p.Ser1743Leu | |
| ENST00000371380.8:c.5276C>T MANE Select | ENSP00000360431.2:p.Ser1759Leu | |
| ENST00000371385.8:c.4250C>T | ENSP00000360438.4:p.Ser1417Leu | |
| ENST00000674738.1:c.3831C>T | ||
| ENST00000674827.1:c.3392C>T | ENSP00000502523.1:p.Ser1131Leu | |
| ENST00000675218.1:c.4352C>T | ENSP00000501910.1:p.Ser1451Leu | |
| ENST00000675487.1:c.*1209C>T | ENSP00000502340.1:n.*1209C>T | |
| ENST00000675718.1:c.4545C>T | ||
| ENST00000260766.7:c.5276C>T | ENSP00000260766.3:p.Ser1759Leu | |
| ENST00000371375.1:c.4352C>T | ENSP00000360426.1:p.Ser1451Leu | |
| ENST00000371380.7:c.5276C>T | ENSP00000360431.2:p.Ser1759Leu | |
| ENST00000371385.7:c.4352C>T | ENSP00000360438.3:p.Ser1451Leu | |
| NM_001165979.2:c.4352C>T | NP_001159451.1:p.Ser1451Leu | |
| NM_001288989.1:c.5228C>T | NP_001275918.1:p.Ser1743Leu | |
| NM_016341.3:c.5276C>T | NP_057425.3:p.Ser1759Leu | |
| XM_006717885.2:c.5318C>T | XP_006717948.1:p.Ser1773Leu | |
| XM_006717886.2:c.5318C>T | XP_006717949.1:p.Ser1773Leu | |
| XM_006717888.2:c.5315C>T | XP_006717951.1:p.Ser1772Leu | |
| XM_006717889.2:c.5270C>T | XP_006717952.1:p.Ser1757Leu | |
| XM_006717890.1:c.4394C>T | XP_006717953.1:p.Ser1465Leu | |
| XM_011539849.1:c.5318C>T | XP_011538151.1:p.Ser1773Leu | |
| XM_011539850.1:c.4163C>T | XP_011538152.1:p.Ser1388Leu | |
| XM_006717885.4:c.5318C>T | XP_006717948.1:p.Ser1773Leu | |
| XM_006717888.4:c.5315C>T | XP_006717951.1:p.Ser1772Leu | |
| XM_006717889.4:c.5270C>T | XP_006717952.1:p.Ser1757Leu | |
| XM_006717890.3:c.4394C>T | XP_006717953.1:p.Ser1465Leu | |
| XM_011539849.3:c.5318C>T | XP_011538151.1:p.Ser1773Leu | |
| XM_011539850.3:c.4163C>T | XP_011538152.1:p.Ser1388Leu | |
| XM_017016310.2:c.5318C>T | XP_016871799.1:p.Ser1773Leu | |
| XM_017016311.2:c.5318C>T | XP_016871800.1:p.Ser1773Leu | |
| XM_017016312.2:c.4304C>T | XP_016871801.1:p.Ser1435Leu | |
| NM_001288989.2:c.5228C>T | NP_001275918.1:p.Ser1743Leu | |
| NM_016341.4:c.5276C>T MANE Select | NP_057425.3:p.Ser1759Leu |